Recurrent hydrocephalus with neural tube defect: a case report

Setu Rathod, Sunil Kumar Samal, Akshay Kumar Mohapatro, Jasmina Begum, Seetesh Ghose


The occurrence of congenital hydrocephalus in successive pregnancies is a rare event. Several modes of genetic transmission have been suggested for familial cases of hydrocephalus. The most common heritable pattern of inheritance is X-linked recessive aqueductal stenosis which carries 25% risk of recurrence in future pregnancies with 50% risk for male fetuses. In families where multiple siblings of both the sexes are affected, an autosomal recessive inheritance due to consanguinity has been an alternative explanation. We report a case of female baby with congenital hydrocephalus and lumbar myelomeningocele who was born of a mother with a history of male babies with congenital hydrocephalus in her previous two pregnancies. She had first degree consanguinity with her husband. We discuss the possible differential diagnoses and etiological factors.


Recurrent congenital hydrocephalus, Neural tube defect, Periconceptional folic acid

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Gollop TR, Eigier O. Early prenatal ultrasound diagnosis of fetal hydrocephalus. Rev Bras Genet. 1987;3:575-80.

Idowu OE, Anga AL. Congenital hydrocephalus in mono and dizygotic twins. East Cent Afr J Surg. 2009;14:64-8.

Addar MH, Babay ZA. Recurrent congenital hydrocephalus: two case reports and counseling highlights. Clin Exp Obstet Gynecol. 2005;

(2):143 4.

Munch TN, Rostgaard K, Rasmussen ML, Wohlfahrt J, Juhler M, Melbye M. Familial aggregation of congenital hydrocephalus in a nationwide cohort. Brain. 2012;135:2409-15.

Zhang J, Williams MA, Rigamonti D. Genetics of human hydrocephalus. J Neurol. 2006;

(10):1255 66.

Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, et al. Congenital hydrocephalus in clinical practice: a genetic diagnostic approach. Eur J Med Genet. 2011;54(6):e542-7.

Papp C, Adám Z, Tóth-Pál E, Török O, Váradi V, Papp Z. Risk of recurrence of craniospinal anomalies. J Matern Fetal Med. 1997;6(1):53-7.

Egbe TO, Halle-Ekane G, Beyiha G, Tsingaing JK, Belley-Priso E, Nyemb JE. Importance of prenatal diagnosis in the effective management of the hydrocephalic fetus: a case report in the Douala General Hospital, Cameroon. Clin Mother Child Health. 2010;7:1233-38.

Rosenberg KD, Gelow JM, Sandoval AP. Pregnancy intendedness and the use of periconceptional folic acid. Pediatrics. 2003;111:1142-5.